WHAT’S UP DOC? Williams syndrome

Tuesday

Oct 31, 2017 at 10:43 AM

By Dr. Jeff Hersh/Daily News Correspondent

Q: Is there really a condition that makes kids be born looking like elves?

A: There is a congenital syndrome called Williams-Beuren Syndrome (WBS, sometimes just called Williams syndrome) that manifests with facial features of a broad forehead, a small upturned nose, full lips with a long upper lip, a small chin, a ‘starburst’ pattern in the colored parts of their eyes (more pronounced in blue or green-eyed patients) and full cheeks, as well as an outgoing, sociable personality. These characteristics have sometimes been referred to as ‘elfin’ features and often become more apparent with age. WBS will be the focus of this week’s column.

WBS is a rare congenital genetic syndrome, affecting about one in 7,000 to 10,000 people. Although WBS can be inherited (in a dominant fashion so there is a 50 percent chance of passing the gene on if one parent has it), almost all cases are due to a spontaneous deletion of multiple genes on chromosome 7, and hence this syndrome can affect anyone and usually occurs sporadically.

The distinct characteristic features described above is usually what raises the suspicion of WBS. When this occurs, the presence of this condition is verified by genetic testing.

The characteristics of WBS include the ‘elf-like’ facial features noted above, and usually a social, friendly, outgoing personality as well. The combination of these often make WBS patients become happy, endearing and popular people. However, there are also many other possible ramifications of WBS that need to be considered, and monitored.

WBS patients often have cardiovascular issues including high blood pressure and/or narrowing of the aorta (the main large artery carrying blood away from the left ventricle), high blood calcium levels and possibly other endocrine issues (which can sometimes cause problematic symptoms), feeding difficulties in the newborn period (often causing slow weight gain), dental issues (for example small, widely spaced teeth), kidney/urinary tract issues, hearing issues (usually hypersensitive hearing making them sensitive to loud noises), musculoskeletal anomalies (such as low muscle tone early on in life, as well as joint issues), learning disabilities (although verbal skills may be strong, supporting the personality traits noted above, spatial/visual relationship and other intellectual skills may be weaker) and other psychosocial issues (despite the benefits patients may get from some of the personality traits noted above, WBS patients also may have attention deficit disorder, social issues from their outgoing/trusting nature, anxiety, and possibly other issues).

There is no specific treatment for WBS patients, but careful monitoring for the conditions that are more common in these patients (as noted above), can identify opportunities for early intervention and treatments of these conditions, hopefully avoiding or at least minimizing complications that may arise from them.

Blood pressure in WBS patients must be carefully monitored, as high blood pressure is very common and may develop early in childhood (in up to half of all WBS patients). Without appropriate treatment, this condition can develop complications just as it does in older patients with poorly controlled high blood pressure.The aortic stenosis in some WBS patients can be severe and also cause complications (including heart problems), and may require medical and/or surgical interventions.Almost a third of WBS patients have kidney or urinary tract abnormalities. Ultrasound imaging may identify these issues, and help guide decision making as to the timing and type of intervention that may be indicated.Monitoring for endocrine issues, including checking blood calcium levels and thyroid function, is recommended and is based on certain routine monitoring as well as increased testing in patients who have symptoms that may be suggestive on an issue.

WBS patients should be followed by a team of clinicians with knowledge and expertise of this condition. These patients will need on-going monitoring (the American Academy of Pediatrics has published specific guidelines for the timing and types of monitoring recommended) to identify possible conditions that they may develop, and then appropriate treatments as indicated to help minimize/prevent complications.